<i>TP53</i> variants underlying pediatric low‐hypodiploidy B‐cell acute lymphoblastic leukemia demonstrate diverse origins and may persist as a hematopoietic clone in remission
Pediatric low-hypodiploidy B-cell acute lymphoblastic leukemia (LH-ALL) with <i>TP53</i> variants has been proposed to be considered a manifestation of Li-Fraumeni syndrome (LFS). However, our study demonstrates that of the majority the pathogenic variants in the TP53 gene are somatic (70.5%), and only 12.5% of patients with germline fulfilled the criteria of LFS. We also describe the first case of hypodiploid BCP-ALL with a mosaic pathogenic mutation in <i>TP53</i> and the first case of the persistence of clonal hematopoiesis with the <i>TР53</i> gene mutation in the child during 3-year minimal residual disease-negative remission, similar to what has been described in adults.
Authors
- А. Н. Казакова (ORCID: https://orcid.org/0000-0002-1085-4646)
- Alexander M. Popov (ORCID: https://orcid.org/0000-0002-0889-6986)
- Alexandra Semchenkova (ORCID: https://orcid.org/0000-0002-7082-1694)
- Elena Osipova (ORCID: https://orcid.org/0000-0002-1873-3486)
- Egor Volchkov (ORCID: https://orcid.org/0000-0002-2574-1636)
- Albert Itov (ORCID: https://orcid.org/0000-0003-0098-919X)
- Olga Soldatkina (ORCID: https://orcid.org/0000-0001-7755-0228)
- G. А. Novichkova (ORCID: https://orcid.org/0000-0002-2322-5734)
- Julia Roumiantseva
- Yulia Olshanskaya (ORCID: https://orcid.org/0000-0002-2352-7716)
- Э Г Бойченко
- Elena Zerkalenkova (ORCID: https://orcid.org/0000-0001-9634-5828)
- Karina Ilyasova (ORCID: https://orcid.org/0009-0003-3441-6397)
- Vladimir Kozeev (ORCID: https://orcid.org/0009-0004-5464-3818)
- A. I. Karachunskiy (ORCID: https://orcid.org/0000-0002-9300-198X)
Institutions
- Peoples' Friendship University of Russia (RU)
- Institute of Molecular and Cell Biology (RU)
- Ministry of Health of the Russian Federation (RU)
- Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology (RU)
- Medical Technologies (Czechia) (CZ)
Publication Details
- Journal
- eJHaem
- Published
- 2024-08-20
- DOI
- https://doi.org/10.1002/jha2.986
- Citations
- 1
- Primary Topic
- Viral-associated cancers and disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.28